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PubMed 21903317 Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD. Homozygous or compound heterozygous mutations in renin (REN) cause renal tubular dysgenesis 1.65 KB 2015-11-26 51 45 2021-12-05
PubMed 21666969 Roles of G1359A polymorphism of the cannabinoid receptor gene (CNR1) on weight loss and adipocytokines after a hypocaloric diet. BACKGROUND: A intragenic biallelic polymorphism (1359 G/A) of the CB1 g 1.72 KB 2015-11-26 26 33 2021-12-05
PubMed 21684788 Large contiguous gene deletions in Sjögren-Larsson syndrome. Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations 1.5 KB 2015-11-26 32 31 2021-12-05
PubMed 21615796 Interleukin-17F gene polymorphism in patients with chronic immune thrombocytopenia. INTRODUCTION: IL-17F is a novel inflammatory cytokine and plays an important role in some autoimmune diseases. We in 1.37 KB 2025-10-02 31 36 2021-12-05
PubMed 21042587 Familial glucocorticoid receptor haploinsufficiency by non-sense mediated mRNA decay, adrenal hyperplasia and apparent mineralocorticoid excess. Primary glucocorticoid resistance (OMIM 138040) is a ra 2.41 KB 2015-11-25 44 46 2021-12-05
PubMed 20583543 Molecular diagnosis of 46,XY DSD and identification of a novel 8 nucleotide deletion in exon 1 of the SRD5A2 gene. Phenotypic presentation of 46,XY DSD depends on the underlying defects. Defect in and 1.25 KB 2015-11-25 29 26 2021-12-05
PubMed 21219851 A novel mutation screening system for Ehlers-Danlos Syndrome, vascular type by high-resolution melting curve analysis in combination with small amplicon genotyping using genomic DNA. Ehlers-Danlos syn 1.76 KB 2025-10-02 31 26 2021-12-05
PubMed 21126715 A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene. Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease tha 1.4 KB 2015-11-25 31 25 2021-12-05
PubMed 21130517 Detection of EGFR mutations in plasma DNA from lung cancer patients by mass spectrometry genotyping is predictive of tumor EGFR status and response to EGFR inhibitors. AIMS: EGFR mutations now guide t 1.96 KB 2015-11-25 44 43 2021-12-05
PubMed 21163864 The M235T polymorphism of the angiotensinogen gene in South Indian patients of hypertrophic cardiomyopathy. INTRODUCTION: Hypertrophic cardiomyopathy (HCM) is a complex disorder and genetically transm 1.49 KB 2015-11-25 28 29 2021-12-05